Variant report

Variant	rs17469443
Chromosome Location	chr7:124052534-124052535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13222713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13242942	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468382	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17382493	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17383127	1.00[CHB][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17467505	0.80[EUR][1000 genomes]
rs2040931	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs34268114	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs34750044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34769824	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35696023	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56324785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71576205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73718622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608338	chr7:123787673-124063498	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1795113	chr7:123885477-124188665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv831117	chr7:123957376-124089186	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1808414	chr7:123957376-124188665	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv889133	chr7:124018435-124094443	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124050800-124054000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124051000-124052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:124051800-124052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:124051800-124052800	Active TSS	Brain Angular Gyrus	brain
5	chr7:124052000-124052600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:124052000-124052600	Active TSS	Ovary	ovary
7	chr7:124052000-124052600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:124052000-124052800	Enhancers	Liver	Liver
9	chr7:124052000-124052800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:124052000-124052800	Active TSS	GM12878-XiMat	blood
11	chr7:124052200-124053000	Weak transcription	Spleen	Spleen
12	chr7:124052400-124052600	Enhancers	Brain Hippocampus Middle	brain
13	chr7:124052400-124052600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:124052400-124052600	Enhancers	Fetal Heart	heart
15	chr7:124052400-124052800	Active TSS	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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